E25K (p.Glu25Lys) variant of DDC (P20711)
E25K (p.Glu25Lys) in DDC (P20711) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E25K (p.Glu25Lys) variant details
- p.Glu25Lys
- rs756869400
- ClinGen CA4262511
- ClinVar RCV001756612
- ClinVar RCV002539878
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.25
- CADD 21.60
- PolyPhen-2 0.07
- SIFT 0.06
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)